ClinVar for MedGen (Select 924419) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2734069	NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr)	REN	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 2585183	NM_016120.4(RLIM):c.1358G>A (p.Ser453Asn)	RLIM (S453N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2500702	NM_016120.4(RLIM):c.74G>T (p.Arg25Leu)	RLIM (R25L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2444076	NM_016120.4(RLIM):c.1115G>A (p.Arg372Gln)	RLIM (R372Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2435439	NM_016120.4(RLIM):c.826T>C (p.Ser276Pro)	RLIM (S276P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2435438	NM_016120.4(RLIM):c.1401_1412del (p.Ser473_Ser476del)	RLIM	Deletion (inframe_deletion)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2435437	NM_016120.4(RLIM):c.507A>C (p.Glu169Asp)	RLIM (E169D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 1709208	NM_016120.4(RLIM):c.1311G>A (p.Met437Ile)	RLIM (M437I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 1333443	NM_016120.4(RLIM):c.1490A>G (p.Asn497Ser)	RLIM (N497S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 1184531	NM_016120.4(RLIM):c.992G>A (p.Gly331Glu)	RLIM (G331E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
Select item 1030534	NM_016120.4(RLIM):c.736A>G (p.Ile246Val)	RLIM (I246V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61 +1 more	GUncertain significance
Select item 992873	NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)	RLIM (Y44C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 979167	NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys)	RLIM (Y421C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
Select item 635529	NM_016120.4(RLIM):c.1364C>A (p.Ser455Tyr)	RLIM (S455Y)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 598940	NM_016120.4(RLIM):c.1729T>C (p.Tyr577His)	RLIM (Y577H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
Select item 585245	NM_016120.4(RLIM):c.1831C>T (p.Arg611Cys)	RLIM (R611C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 585244	NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)	RLIM (R365C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 585243	NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)	RLIM (D598N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61 +1 more	GPathogenic/Likely pathogenic
Select item 253089	NM_016120.4(RLIM):c.1795C>T (p.Arg599Cys)	RLIM (R599C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GPathogenic
Select item 253088	NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)	RLIM (R387C)	Single nucleotide variant (missense variant)	Non-syndromic X-linked intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 253087	NM_016120.4(RLIM):c.1760C>G (p.Pro587Arg)	RLIM (P587R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GPathogenic
Select item 156224	NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)	RLIM (Y356C)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic

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Items: 22